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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:acromesomelic dysplasia, Hunter-Thompson type
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Accession:DOID:0080051 term browser browse the term
Definition:An acromesomelic dysplasia that has_material_basis_in mutation in AMDH gene which results_in normal axial skeleton but fused bones in the located_in hand or located_in foot. (DO)
Synonyms:exact_synonym: AMDH
 primary_id: OMIM:201250
 alt_id: RDO:0000908
 xref: ORDO:968
For additional species annotation, visit the Alliance of Genome Resources.


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acromesomelic dysplasia, Hunter-Thompson type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmpr1b bone morphogenetic protein receptor type 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:29322508 NCBI chr 2:247,392,195...247,662,026
Ensembl chr 2:247,403,920...247,446,882
JBrowse link
G Gdf5 growth differentiation factor 5 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia, Hunter-Thompson type
ClinVar Annotator: match by term: Acromesomelic dysplasia Hunter Thompson type
OMIM
ClinVar
PMID:964999, PMID:2703235, PMID:8589725, PMID:17384641, PMID:25741868, PMID:28492532 NCBI chr 3:151,482,672...151,487,129
Ensembl chr 3:151,483,249...151,486,693
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      endocrine system disease 4987
        Dwarfism 493
          acromesomelic dysplasia 4
            acromesomelic dysplasia, Hunter-Thompson type 2
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      musculoskeletal system disease 5739
        connective tissue disease 4099
          bone disease 3528
            bone development disease 1335
              Dwarfism 493
                acromesomelic dysplasia 4
                  acromesomelic dysplasia, Hunter-Thompson type 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.